LOCUS       NM_001146028            4265 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens junctophilin 4 (JPH4), transcript variant 2, mRNA.
ACCESSION   NM_001146028
VERSION     NM_001146028.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4265)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4265)
  AUTHORS   Yamazaki,D., Yamazaki,T. and Takeshima,H.
  TITLE     New molecular components supporting ryanodine receptor-mediated
            Ca(2+) release: roles of junctophilin and TRIC channel in embryonic
            cardiomyocytes
  JOURNAL   Pharmacol Ther 121 (3), 265-272 (2009)
   PUBMED   19095005
  REMARK    GeneRIF: reviews the structure and function of human junctophilins
            Review article
REFERENCE   3  (bases 1 to 4265)
  AUTHORS   Nishi,M., Sakagami,H., Komazaki,S., Kondo,H. and Takeshima,H.
  TITLE     Coexpression of junctophilin type 3 and type 4 in brain
  JOURNAL   Brain Res Mol Brain Res 118 (1-2), 102-110 (2003)
   PUBMED   14559359
  REMARK    GeneRIF: reports the gene structure of human JPH4
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB058734.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001146028.1.
            
            Summary: This gene encodes a member of the junctophilin family of
            transmembrane proteins that are involved in the formation of the
            junctional membrane complexes between the plasma membrane and the
            endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded
            protein contains a conserved N-terminal repeat region called the
            membrane occupation and recognition nexus sequence that is found in
            other members of the junctophilin family. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Mar
            2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB058734.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356300.9/ ENSP00000348648.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4265              AB058734.1         11-4275
FEATURES             Location/Qualifiers
     source          1..4265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..4265
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /note="junctophilin 4"
                     /db_xref="GeneID:84502"
                     /db_xref="HGNC:HGNC:20156"
                     /db_xref="MIM:619863"
     exon            1..611
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..1161
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             783..2669
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /note="junctophilin like 1; JP-4; junctophilin-like 1
                     protein"
                     /codon_start=1
                     /product="junctophilin-4"
                     /protein_id="NP_001139500.1"
                     /db_xref="CCDS:CCDS9603.1"
                     /db_xref="GeneID:84502"
                     /db_xref="HGNC:HGNC:20156"
                     /db_xref="MIM:619863"
                     /translation="MSPGGKFDFDDGGCYVGGWEAGRAHGYGVCTGPGAQGEYSGCWA
                     HGFESLGVFTGPGGHSYQGHWQQGKREGLGVERKSRWTYRGEWLGGLKGRSGVWESVS
                     GLRYAGLWKDGFQDGYGTETYSDGGTYQGQWQAGKRHGYGVRQSVPYHQAALLRSPRR
                     TSLDSGHSDPPTPPPPLPLPGDEGGSPASGSRGGFVLAGPGDADGASSRKRTPAAGGF
                     FRRSLLLSGLRAGGRRSSLGSKRGSLRSEVSSEVGSTGPPGSEASGPPAAAPPALIEG
                     SATEVYAGEWRADRRSGFGVSQRSNGLRYEGEWLGNRRHGYGRTTRPDGSREEGKYKR
                     NRLVHGGRVRSLLPLALRRGKVKEKVDRAVEGARRAVSAARQRQEIAAARAADALLKA
                     VAASSVAEKAVEAARMAKLIAQDLQPMLEAPGRRPRQDSEGSDTEPLDEDSPGVYENG
                     LTPSEGSPELPSSPASSRQPWRPPACRSPLPPGGDQGPFSSPKAWPEEWGGAGAQAEE
                     LAGYEAEDEAGMQGPGPRDGSPLLGGCSDSSGSLREEEGEDEEPLPPLRAPAGTEPEP
                     IAMLVLRGSSSRGPDAGCLTEELGEPAATERPAQPGAANPLVVGAVALLDLSLAFLFS
                     QLLT"
     exon            1162..1933
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2052
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2053..2585
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2586..4265
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      4216
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /note="major polyA site"
     regulatory      4247..4252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /note="hexamer: AATAAA"
     polyA_site      4265
                     /gene="JPH4"
                     /gene_synonym="JP4; JPHL1"
                     /note="major polyA site"
ORIGIN      
        1 agtgcatctc cttctcctct ctgcctgcct cctccctcac cgaagggtta gcggacaccc
       61 atccttttct gcttggggac cccaccacca cccgcaacac tgccgctgtc tcttcttcac
      121 cgtatccttc tctacccacc ctcttctctc ttctcttctc cctgcccctt taaatctgcc
      181 tggcccagcc tcccccgtga tgctgggatg gagcaaacat tgatttgtgc tgggatggaa
      241 tcggaatttt gatttatttt tcctctccca accataagaa gaaaaaaata ataaaaacac
      301 cccctcttga gagccccctc cccctttgca tccagctccc agctcttctt ccctatctcc
      361 atccaaggca gattttttcc cctacactat tctcatcttc ccccaccctt gccactacct
      421 cgccccccca cccagcctgc tcctccagct ggggagagag gggactctcc ggactccccc
      481 acctttcctc tctgggttgg agcagtctct ccggaagggg agggggcttg gcttgtccgg
      541 gcgaggtggg agtggaggta tcctgccatg gatgctgtgc cggggaggca gcctgagccc
      601 cagcccacat gccactcagg atgagggtcc ggccctgcct gccctcgctg gggccccccc
      661 gcccggcccc ggtctaactg cccccgcccc gaggcctcgc ccggctccaa ggcccccagc
      721 aggctctcca gtcccaggat gcgctgagcc gccggggggc tgaggccgcg ccaactacat
      781 gcatgtcccc cgggggcaag ttcgactttg acgacggggg ctgctacgtg gggggctggg
      841 aggcggggcg ggcacatggc tacggcgtgt gcacgggccc cggcgcccag ggcgagtaca
      901 gcggctgctg ggcacacggc ttcgagtcac tgggcgtctt cacggggccc ggcggacaca
      961 gctaccaggg ccactggcag cagggcaagc gcgaagggct gggcgtggag cgcaagagcc
     1021 gctggacgta ccgcggcgag tggctgggcg ggctgaaggg gcgcagcggc gtgtgggaaa
     1081 gcgtgtccgg cctgcgctac gccgggctct ggaaggacgg tttccaggac ggctacggca
     1141 ctgagaccta ctccgacgga ggcacctacc agggccagtg gcaggccggg aagcgccacg
     1201 gctacggggt acgccagagt gtgccctacc atcaggcggc gctgctgcgc tcgccccgcc
     1261 gcacctccct ggattccggc cacagcgacc ccccgacgcc acccccgccc ctgcccttgc
     1321 cgggcgacga gggaggcagc cccgcctcgg gctcccgggg cggcttcgtg ctggccgggc
     1381 ccggggacgc cgacggcgcg tcgtcccgaa agcgcactcc ggcggccggc ggattctttc
     1441 gccgttcgct gctgctcagc gggctccgag cgggcggacg tcgcagctcc ctgggcagca
     1501 agcgaggctc cctgcgcagc gaggtgagca gcgaggtggg cagcaccgga ccgcccggct
     1561 cggaggccag cgggcccccg gccgcagcgc cgcccgccct catcgagggc tcggccacag
     1621 aggtgtacgc gggcgagtgg cgcgcagatc ggcgcagcgg cttcggcgtc agccagcgct
     1681 ccaacgggct gcgctacgag ggcgagtggc tgggcaaccg gcggcacggc tacgggcgca
     1741 ccacccgccc cgacggctcc cgcgaggagg gcaagtacaa gcgcaaccgg ctggtgcacg
     1801 gcgggcgcgt ccgcagtctc ctgcctctgg cccttcggcg gggcaaggtt aaggagaagg
     1861 tggacagggc tgtcgagggc gcccgtcgag ccgtgagtgc tgcccgtcag cgccaggaga
     1921 tcgccgctgc cagggcagca gacgccctcc taaaggcagt ggcagccagc agtgtcgctg
     1981 agaaggccgt ggaggcagct cgaatggcca aactgatagc ccaggacctg cagcccatgc
     2041 tagaggcccc aggccgcaga cccaggcagg actcagaagg ttccgacacg gagcccctgg
     2101 atgaggacag ccctggggta tatgagaacg gactgacccc ctcagaggga tcccctgaac
     2161 tgcccagcag tcctgcctcc tcccgccaac cctggcgacc ccctgcctgc cggagcccac
     2221 tgcctcctgg aggggaccag ggtcccttct ccagccccaa agcttggcct gaggagtggg
     2281 ggggggcagg cgcacaggca gaggaactag ctggctatga ggctgaggat gaggctggga
     2341 tgcaagggcc agggcccaga gacggttccc cactcctcgg aggctgcagc gacagttcag
     2401 gaagtcttcg agaggaggag ggggaggatg aagagcccct gcccccgctg agggccccag
     2461 caggcacgga gcctgagccc atcgccatgc tggtcctgag gggctcgtcc tcgaggggtc
     2521 ctgatgctgg gtgcctgaca gaagagctcg gggagcccgc tgcaaccgag aggcctgccc
     2581 agccgggagc tgccaacccc ctggtggtgg gagccgtggc cctcctggac ctcagcctgg
     2641 cattcctgtt ctcccagctc ctcacctgag gctacttcct ggcctggttc tggctttggt
     2701 tgcgtgcctc ttcacccctt tgacctgcct tttttctctt ctcctcttcc tggctgtgtt
     2761 ttctcctatc tttctttctc ttcttccttt cttttctgtg ctcctttgtt tttttctctc
     2821 gctttttctt tccctgtctt ctttcagatt atctcatttc ttctggatct gtctctgtat
     2881 tcctcactcc cttccccatc ccaacccctt ctttctctag attgtttaca tatgaagggc
     2941 ttttctctct cagagttgct gtcttctctg agacacacaa atctaagtca gaccattgct
     3001 ccacgccctc ccaccttttc tttagacctc aacttcgctg cgggtggggg tttggtgtcc
     3061 taaggagact cctggaagct gaatggagag gaggaagaaa atgaagaagg agtgattgaa
     3121 tgtcgggcaa ggcactggct gagctgctgt ggctccctag cctaaggggc ctgctgtccc
     3181 tctgaggcct agtgaaaaag ctgcaggagg tgcatcctcc acctctaatc ttggaggcta
     3241 ttatcttacc tccaagcact gagctgggtt actgcccaat tccatccttc cctgaaggag
     3301 agaagggaag tgaaaagtag agtaactccc cagcatttcc ctctttttct cctcatcggc
     3361 cagcccctcc tccagccccc tctggtggca tgccatgcca agagcaacgt gtaaaggaac
     3421 agagaatatc caatgcagtc aagtccaccc tgcccagact ttgccactga cttctcccac
     3481 ccttctgtct cccccataat agtttatttg gttggtctgg actcacttgt ggcctttgat
     3541 taaattccta aggggcctga agaagacatt tctactgcag agggttagag gcacttgagc
     3601 aaggccccca catcccaact ctgggagttg tggtgggagg aggcacttct gggggatagg
     3661 accagacaag ataacaggag ctcacatgga agcagaagct gtgacaagtt tagtagtccc
     3721 aaaatgggtt atatcccttc cccctttaca tcagaatctt gtgaaatggg aaaacaacag
     3781 aaggagggga tcaaagatag ctgatctcac atgcttccca ggcagggcag aggtgggagt
     3841 caaacccggg tgacaggtgg gtggagagcc ctgtttgagg ttgtggctga tccctctctg
     3901 gtattagttt ttcccctggg agcaggaagc cctaggaaga ggggactgca gggtccccag
     3961 gggatctttc ctccctcccc tgcatgaggc agaggcaagc tgcctgccaa ccccctccct
     4021 caaggaatgg ccttgcccag gaatgcccac cacacatacc ctcttctttt tttctagtca
     4081 aactcttgtt tattccttgg cttgcctccc tccttcctcc cctctcaacc tttacttctg
     4141 atttctattt catggaattt gggattgaag ttaaactaca acagtgccgc caacaccaag
     4201 tcttgcagga aaaaaataca aagaaattta acaaaaaaaa tatattaata aaaaagttca
     4261 aaaaa
//
